Incidental Mutation 'R5713:Pax4'
| ID |
450990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax4
|
| Ensembl Gene |
ENSMUSG00000029706 |
| Gene Name |
paired box 4 |
| Synonyms |
Pax-4 |
| MMRRC Submission |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28442333-28449339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28446184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 103
(I103T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031718]
[ENSMUST00000164519]
[ENSMUST00000171089]
[ENSMUST00000174194]
|
| AlphaFold |
P32115 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031718
AA Change: I103T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: I103T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164519
AA Change: I103T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: I103T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171089
AA Change: I103T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: I103T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174036
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174194
AA Change: I103T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: I103T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
139 |
190 |
2.22e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174423
|
| Meta Mutation Damage Score |
0.8480 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,928 (GRCm39) |
P473S |
probably damaging |
Het |
| Casp3 |
C |
A |
8: 47,089,349 (GRCm39) |
T199K |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,741,921 (GRCm39) |
V57M |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,669 (GRCm39) |
N843D |
possibly damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,183 (GRCm39) |
M37K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,851 (GRCm39) |
E226G |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,058,226 (GRCm39) |
I38F |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
probably benign |
Het |
|
| Other mutations in Pax4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03150:Pax4
|
APN |
6 |
28,444,338 (GRCm39) |
missense |
probably null |
1.00 |
|
R0034:Pax4
|
UTSW |
6 |
28,442,448 (GRCm39) |
missense |
probably benign |
|
|
R1523:Pax4
|
UTSW |
6 |
28,444,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Pax4
|
UTSW |
6 |
28,443,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2014:Pax4
|
UTSW |
6 |
28,446,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4037:Pax4
|
UTSW |
6 |
28,443,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5117:Pax4
|
UTSW |
6 |
28,446,278 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5163:Pax4
|
UTSW |
6 |
28,446,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Pax4
|
UTSW |
6 |
28,444,368 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5200:Pax4
|
UTSW |
6 |
28,445,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Pax4
|
UTSW |
6 |
28,447,126 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6185:Pax4
|
UTSW |
6 |
28,446,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Pax4
|
UTSW |
6 |
28,442,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6923:Pax4
|
UTSW |
6 |
28,447,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7054:Pax4
|
UTSW |
6 |
28,446,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Pax4
|
UTSW |
6 |
28,446,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Pax4
|
UTSW |
6 |
28,442,513 (GRCm39) |
missense |
probably benign |
|
|
R9110:Pax4
|
UTSW |
6 |
28,445,201 (GRCm39) |
missense |
probably benign |
|
|
R9438:Pax4
|
UTSW |
6 |
28,446,185 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Pax4
|
UTSW |
6 |
28,442,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Pax4
|
UTSW |
6 |
28,442,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGCAGCTTGACGCACTC -3'
(R):5'- CACACTCAGGTATCTAATGGCTG -3'
Sequencing Primer
(F):5'- AGCTTGACGCACTCCCCTG -3'
(R):5'- CTGTGTGAGCAAGATCCTAGGAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation